A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

Rhizomelic chondrodysplasia punctata (RCDP) is a group of disorders with overlapping clinical features including rhizomelia, chondrodysplasia punctata, coronal clefts, cervical dysplasia, congenital cataracts, profound postnatal growth retardation, severe intellectual disability, and seizures. Mutat...

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Bibliografiska uppgifter
I publikationen:Am J Hum Genet
Huvudupphovsmän: Buchert, Rebecca, Tawamie, Hasan, Smith, Christopher, Uebe, Steffen, Innes, A. Micheil, Al Hallak, Bassam, Ekici, Arif B., Sticht, Heinrich, Schwarze, Bernd, Lamont, Ryan E., Parboosingh, Jillian S., Bernier, Francois P., Abou Jamra, Rami
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2014
Ämnen:
Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4225589/
https://ncbi.nlm.nih.gov/pubmed/25439727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.10.003
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